Egyptian patient with Schwartz-Jampel syndrome type I and new ocular findings

Schwartz Jampel syndrome is a rare autosomal recessive disease with distinctive clinical features, myotonia and skeletal deformities. Diagnosis is based on clinical findings, electromyogram showing myotonia and radiological findings of platyspondyly, vertebral coronal cleft and metaphyseal and epiphyseal changes of long bones. Ocular manifestation is a part of the syndrome and include blepharospasm, cataract, subluxation of lens and myopia. The disease is caused by mutations of HSPG2 gene at chromosome 1p36.1 causing deficiency of Perlecan protein and manifested as mild childhood type [type IA] and severe congenital type [type IB]. The aim of this report is to describe an Egyptian patient with Schwartz Jampel syndrome type IB and retinal pigment epithelial atrophy. As far as our knowledge, this ocular finding was not reported before

Familial Peters Plus syndrome with absent anal canal, sacral agenesis and sensorineural hearing loss: expanding the clinical spectrum

Peters anomaly is a rare form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs involving the central or entire cornea. It may be associated with other ocular or systemic abnormalities. Peters Plus syndrome, also known as Krause-Kivlin syndrome, characterized by additional anomalies including short stature with developmental delay, facial dysmorphism, genitourinary abnormalities; syndactyly; brachycephaly; and cardiac, neural, and hearing abnormalities. Here we report an 8 month old boy with typical features of Peters Plus syndrome including eye anomalies, dysmorphic features, global developmental delay, growth retardation, bilateral talipes equinovarus, complex renal anomalies, absent anal canal, sacral agenesis and sensorineural hearing loss. To our knowledge, the last three features were not reported before

Extended metabolic screen in sick neonates and children

Inborn errors of metabolism [IEM] are rare hereditary diseases resulting from incompetence in enzymatic reactions of intermediary metabolism. They are responsible for a significant level of neonatal and pediatric morbidity and mortality. There are 2 main problems in detecting IEM, first: symptoms are non-specific and often similar to those of sick neonates, therefore, only a small number of these diseases will be diagnosed from typical clinical picture alone and we can rarely target the specific investigation required for diagnosis of the offending disease. Secondly, investigations are complex and expensive. In Egypt, with limited facilities, extended metabolic screening [EMS] for sick neonates and children with symptoms indicative of IEM would be the best choice. This approach is called selective screening. In this paper, Extended Metabolic Screen was done to 231 cases [44 neonates and 187 children] with different symptoms suggesting IEM. Abnormal results were found in 22.73% of neonates and in 26.66% of those with previous neonatal death. First cousin marriage was present in 80% of neonates with abnormal EMS. Abnormal screen included organic acidemias [13.63%], amino acid Opathies [4.55%], and fatty acid oxidation defects [4.55%]. On the other hand, 8.56% of children had abnormal results. This included amino acid opathies [5.88%], organic acidemias [1.07%], cystic fibrosis [CF], congenital adrenal hyperplasia [CAH], and congenital hypothyroidism [CH] [1.61%]. We also found that 6.48% of children presenting with mental retardation had phenyl ketonuria [PKU], and nearly 10% of Children presenting with convulsion had MSUD, and another 10% had CAH. To conclude, selective screening to sick neonates and children with a simple, relatively cheap method like Extended Metabolic Screen [EMS] is the best cost effective test with high detection rate for IEM in neonates and children especially in Egypt with both high rate of consanguinity and limited facilities. A national screening program for PKU is extremely essential and increased awareness of the clinical presentation of the disease is a priority

Gaucher disease with pulmonary, cardiac and renal involvement: improvement on fractionation of Cerezyme dose

We report the improvement of extensive pulmonary infiltration and lung symptoms in 2 8/12 years old boy with Gaucher disease on fractionation of a high dose of Cerezyme every three days. We also report the unusual finding of concentric left ventricular hypertrophy and multiple right kidney stones in this patient

Down syndrome in Egypt

Down syndrome [DS] is the most common and best-known chromosomal disorder and is the single most common genetic cause of mental retardation. Governmental care of this syndrome and other handicapping conditions has increased tremendoussly in the past few years to the extent that DS phenotype has become a phobia and many parents and/or physicians referred normal babies for karyotype for suspicion of chromosomal anomalies or for reassurance of their parents. On the other hand, prenatal screening is still inaccessible to most families and almost all cases of Down syndrome are diagnosed postnatally. In this paper we present the first and the largest study on DS patients from different regions all over Egypt aiming to look for possible causal factors for this high prevalence, and to evaluate the trend of parents and clinicians to the new screening programs and prenatal diagnosis. The Study included 1100 patients referred as DS, 1030 cases were confirmed by Cytogenetic analysis to be DS. Most of these cases [98.43%] were diagnosed postnatally and only 1.56% were detected prenatally mainly through mniocentesis and rarely products of conception [0.01%]. Their ages ranged from one hour to 30 years with median of 3 months. Males represented 54.13% while females represented 45.87% of the studied group. Mean maternal age at conception was 31.8 years for cases with non disjunction and 24.5 years for cases with translocation. All mothers of cases of translocation DS were under 35 years, in contrast to mothers of non disjunction cases in which 41.48% were above 35. Paternal age ranged from 19 to 62 years with mean of 36.5 years in non-disjunction cases and from 24-35 years in translocation cases with mean of 30.6 years. Consanguineous marriage was present in 12% of cases. Positive family history was present in 6% of cases. Most of cases were the first or the second in order of birth, and the most common cause of referral was dysmorphic features in live births and advanced maternal age in prenatally referred cases. Karyotype revealed that 93.98% of cases had non-disjunction, 3.5% of cases had translocation and 1.84% had mosaicism. Non classical karyotype was present in 7 cases [0.68%]. Most of the cases of translocation were t [21; 21], which was present in 51.35% of cases, followed by t [14; 21], which was present in 40.5% of cases, t [13; 21] in 5.4%, and t [15; 21] in 2.7% of cases of translocation. In conclusion, in Egypt with 1.6 million births / year and estimated risk of 2285 DS births annually, the concept of preventive genetics should be reinforced with a national policy targeting both health professionals and general public to offer prenatal genetic screening for all pregnant ladies and prenatal diagnosis for screen positive cases. This needs an integrated system including proper integrated diagnostic facilities, trained personnel and professional staff